Associated Papers
Case report of hemochromatosis with HJV variation in a Chinese boy: "Non-parallel" phenomenon in phlebotomy treatment and new thinking on curative effect evaluation.
Liu Y et al.
Medicine, 2025
[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].
Zhang W et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2024
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.
Xie LD et al.
World Journal of Clinical Cases, 2024
Primary Non-HFE Hemochromatosis: A Review.
Turshudzhyan A et al.
Journal of Clinical and Translational Hepatology, 2023
DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
Li Y et al.
Hepatology International, 2023
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 2020
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
Sun SY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.
Wang Y et al.
International Journal of Hematology, 2017
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].
Yuanfeng L et al.
Yi Chuan = Hereditas, 2014
Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.
Li S et al.
International Journal of Hematology, 2014
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively.
Liu G et al.
British Journal of Haematology, 2012
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.
Silvestri L et al.
Blood, 2007
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.
Babitt JL et al.
Nature Genetics, 2006
Hemochromatosis: genetics and pathophysiology.
Beutler E
Annual Review of Medicine, 2006
Genetic background of primary iron overload syndromes in Japan.
Hayashi H et al.
Internal Medicine (tokyo, Japan), 2006
Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders.
Camaschella C
Blood, 2005
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
HJV gene mutations in European patients with juvenile hemochromatosis.
Gehrke SG et al.
Clinical Genetics, 2005
[Non-HFE related hereditary iron overload].
Brissot P et al.
Gastroenterologie Clinique Et Biologique, 2005
Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.
Jánosi A et al.
Blood, 2005
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
Barton JC et al.
Bmc Medical Genetics, 2004
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
[Iron overload and HFE gene].
Deugnier Y et al.
Gastroenterologie Clinique Et Biologique, 1999